Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-γ Receptor 1 Deficiency

по Prando, Carolina, Boisson-Dupuis, Stéphanie, Grant, Audrey, Kong, Xiao-Fei, Bustamante, Jacinta, Feinberg, Jacqueline, Chapgier, Ariane, Rose, Yoann, Jannière, Lucile, Rizzardi, Elena, Zhang, Qiuping, Shanahan, Catherine M, Viollet, Louis, Lyonnet, Stanislas, Abel, Laurent, Ruga, Ezia Maria, Casanova, Jean-Laurent
Опубликовано 2010

IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

по Boisson-Dupuis, Stéphanie, El Baghdadi, Jamila, Parvaneh, Nima, Bousfiha, Aziz, Bustamante, Jacinta, Feinberg, Jacqueline, Samarina, Arina, Grant, Audrey V., Janniere, Lucile, El Hafidi, Naima, Hassani, Amal, Nolan, Daniel, Najib, Jilali, Camcioglu, Yildiz, Hatipoglu, Nevin, Aydogmus, Cigdem, Tanir, Gonul, Aytekin, Caner, Keser, Melike, Somer, Ayper, Aksu, Guside, Kutukculer, Necil, Mansouri, Davood, Mahdaviani, Alireza, Mamishi, Setareh, Alcais, Alexandre, Abel, Laurent, Casanova, Jean-Laurent
Опубликовано 2011

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

по Bustamante, Jacinta, Arias, Andres A, Vogt, Guillaume, Picard, Capucine, Galicia, Lizbeth Blancas, Prando, Carolina, Grant, Audrey V, Marchal, Christophe C, Hubeau, Marjorie, Chapgier, Ariane, de Beaucoudrey, Ludovic, Puel, Anne, Feinberg, Jacqueline, Valinetz, Ethan, Jannière, Lucile, Besse, Céline, Boland, Anne, Brisseau, Jean-Marie, Blanche, Stéphane, Lortholary, Olivier, Fieschi, Claire, Emile, Jean-François, Boisson-Dupuis, Stéphanie, Al-Muhsen, Saleh, Woda, Bruce, Newburger, Peter E, Condino-Neto, Antonio, Dinauer, Mary C, Abel, Laurent, Casanova, Jean-Laurent
Опубликовано 2011

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

по Sologuren, Ithaisa, Boisson-Dupuis, Stéphanie, Pestano, Jose, Vincent, Quentin Benoit, Fernández-Pérez, Leandro, Chapgier, Ariane, Cárdenes, María, Feinberg, Jacqueline, García-Laorden, M. Isabel, Picard, Capucine, Santiago, Esther, Kong, Xiaofei, Jannière, Lucile, Colino, Elena, Herrera-Ramos, Estefanía, Francés, Adela, Navarrete, Carmen, Blanche, Stéphane, Faria, Emilia, Remiszewski, Paweł, Cordeiro, Ana, Freeman, Alexandra, Holland, Steven, Abarca, Katia, Valerón-Lemaur, Mónica, Gonçalo-Marques, José, Silveira, Luisa, García-Castellano, José Manuel, Caminero, José, Pérez-Arellano, José Luis, Bustamante, Jacinta, Abel, Laurent, Casanova, Jean-Laurent, Rodríguez-Gallego, Carlos
Опубликовано 2011

Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

по von Bernuth, Horst, Picard, Capucine, Jin, Zhongbo, Pankla, Rungnapa, Xiao, Hui, Ku, Cheng-Lung, Chrabieh, Maya, Mustapha, Imen Ben, Ghandil, Pegah, Camcioglu, Yildiz, Vasconcelos, Júlia, Sirvent, Nicolas, Guedes, Margarida, Vitor, Artur Bonito, Herrero-Mata, María José, Aróstegui, Juan Ignacio, Rodrigo, Carlos, Alsina, Laia, Ruiz-Ortiz, Estibaliz, Juan, Manel, Fortuny, Claudia, Yagüe, Jordi, Antón, Jordi, Pascal, Mariona, Chang, Huey-Hsuan, Janniere, Lucile, Rose, Yoann, Garty, Ben-Zion, Chapel, Helen, Issekutz, Andrew, Maródi, László, Rodriguez-Gallego, Carlos, Banchereau, Jacques, Abel, Laurent, Li, Xiaoxia, Chaussabel, Damien, Puel, Anne, Casanova1, Jean-Laurent
Опубликовано 2008

Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

по de Beaucoudrey, Ludovic, Puel, Anne, Filipe-Santos, Orchidée, Cobat, Aurélie, Ghandil, Pegah, Chrabieh, Maya, Feinberg, Jacqueline, von Bernuth, Horst, Samarina, Arina, Jannière, Lucile, Fieschi, Claire, Stéphan, Jean-Louis, Boileau, Catherine, Lyonnet, Stanislas, Jondeau, Guillaume, Cormier-Daire, Valérie, Le Merrer, Martine, Hoarau, Cyrille, Lebranchu, Yvon, Lortholary, Olivier, Chandesris, Marie-Olivia, Tron, François, Gambineri, Eleonora, Bianchi, Lucia, Rodriguez-Gallego, Carlos, Zitnik, Simona E., Vasconcelos, Julia, Guedes, Margarida, Vitor, Artur Bonito, Marodi, Laszlo, Chapel, Helen, Reid, Brenda, Roifman, Chaim, Nadal, David, Reichenbach, Janine, Caragol, Isabel, Garty, Ben-Zion, Dogu, Figen, Camcioglu, Yildiz, Gülle, Sanyie, Sanal, Ozden, Fischer, Alain, Abel, Laurent, Stockinger, Birgitta, Picard, Capucine, Casanova, Jean-Laurent
Опубликовано 2008

Inherited IL-12p40 Deficiency: Genetic, Immunologic, and Clinical Features of 49 Patients From 30 Kindreds

по Prando, Carolina, Samarina, Arina, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Cobat, Aurelie, Picard, Capucine, AlSum, Zobaida, Al-Jumaah, Suliman, Al-Hajjar, Sami, Frayha, Husn, Al-Mousa, Hamoud, Ben-Mustapha, Imen, Adimi, Parisa, Feinberg, Jacqueline, de Suremain, Maylis, Jannière, Lucile, Filipe-Santos, Orchidée, Mansouri, Nahal, Stephan, Jean-Louis, Nallusamy, Revathy, Kumararatne, Dinakantha S., Bloorsaz, Mohamad Reza, Ben-Ali, Meriem, Elloumi-Zghal, Houda, Chemli, Jalel, Bouguila, Jihene, Bejaoui, Mohamed, Alaki, Emadia, AlFawaz, Tariq S., Al Idrissi, Eman, ElGhazali, Gehad, Pollard, Andrew J., Murugasu, Belinda, Wah Lee, Bee, Halwani, Rabih, Al-Zahrani, Mohammed, Al Shehri, Mohammed A., Al-Zahrani, Mofareh, Bin-Hussain, Ibrahim, Mahdaviani, Seyed Alireza, Parvaneh, Nima, Abel, Laurent, Mansouri, Davood, Barbouche, Ridha, Al-Muhsen, Saleh, Casanova, Jean-Laurent
Опубликовано 2013

Revisiting Human IL-12Rβ1 Deficiency: A Survey of 141 Patients From 30 Countries

по de Beaucoudrey, Ludovic, Samarina, Arina, Bustamante, Jacinta, Cobat, Aurélie, Boisson-Dupuis, Stéphanie, Feinberg, Jacqueline, Al-Muhsen, Saleh, Jannière, Lucile, Rose, Yoann, Desurenaim, Maylis, Kong, Xiao-Fei, Filipe-Santos, Orchidée, Chapgier, Ariane, Picard, Capucine, Fischer, Alain, Dogu, Figen, Ikinciogullari, Aydan, Tanir, Gonul, Hajjar, Sami Al, Jumaah, Suliman Al, Frayha, Husn H., AlSum, Zobida, Ajaji, Sulaiman Al, Alangari, Abdullah, Al-Ghonaium, Abdulaziz, Adimi, Parisa, Mansouri, Davood, Mustapha, Imen Ben, Yancoski, Judith, Garty, Ben Zion, Rodriguez-Gallego, Carlos, Caragol, Isabel, Kutukculer, Necil, Kumararatne, Dinanthaka S., Patel, Smita, Doffinger, Rainer, Exley, Andrew, Jeppsson, Olle, Reichenbach, Janine, Nadal, David, Boyko, Yaryna, Pietrucha, Barbara, Anderson, Suzanne, Levin, Michael, Schandené, Liliane, Schepers, Kinda, Efira, André, Mascart, Françoise, Matsuoka, Masao, Sakai, Tatsunori, Siegrist, Claire-Anne, Frecerova, Klara, Blüetters-Sawatzki, Renate, Bernhöft, Jutta, Freihorst, Joachim, Baumann, Ulrich, Richter, Darko, Haerynck, Filomeen, De Baets, Frans, Novelli, Vas, Lammas, David, Vermylen, Christiane, Tuerlinckx, David, Nieuwhof, Chris, Pac, Malgorzata, Haas, Walther H., Müller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Levy, Jacob, Raj, Revathi, Cohen, Aileen Cleary, Lewis, David B., Holland, Steven, Yang, Kuender D., Wang, Xiaochuan, Jiang, Xiaohong Wang, Liping, Yang, Xiqiang, Zhu, Chaomin, Xie, Yuanyuan, Lee, Pamela Pui Wah, Chan, Koon Wing, Chen, Tong-Xin, Castro, Gabriela, Ivelisse, Natera, Codoceo, Ana, King, Alejandra, Bezrodnik, Liliana, Giovani, Daniela Di, Gaillard, Maria Isabel, de Moraes-Vasconcelos, Dewton, Grumach, Anete Sevciovic, Duarte, Alberto Jose da Silva, Aldana, Ruth, Espinosa-Rosales, Francisco Javier, Bejaoui, Mohammed, Bousfiha, Ahmed Aziz, El Baghdadi, Jamila, Özbek, Namik, Aksu, Guzide, Keser, Melike, Somer, Ayper, Hatipoglu, Nevin, Aydogmus, Çigdem, Asilsoy, Suna, Camcioglu, Yildiz, Gülle, Saniye, Ozgur, Tuba T., Ozen, Meteran, Oleastro, Matias, Bernasconi, Andrea, Mamishi, Setareh, Parvaneh, Nima, Rosenzweig, Sergio, Barbouche, Ridha, Pedraza, Sigifredo, Lau, Yu Lung, Ehlayel, Mohammad S., Fieschi, Claire, Abel, Laurent, Sanal, Ozden, Casanova, Jean-Laurent
Опубликовано 2010